Incidental Mutation 'R1477:Vps35'
| ID |
164132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35
|
| Ensembl Gene |
ENSMUSG00000031696 |
| Gene Name |
VPS35 retromer complex component |
| Synonyms |
Mem3 |
| MMRRC Submission |
039530-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1477 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85987014-86026146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86014429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 73
(E73D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034131]
|
| AlphaFold |
Q9EQH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034131
AA Change: E73D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
AA Change: E73D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps35
|
15 |
753 |
6.8e-303 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211479
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E10. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
A |
C |
19: 55,279,904 (GRCm39) |
D481A |
probably benign |
Het |
| Adam2 |
A |
C |
14: 66,315,149 (GRCm39) |
L8R |
possibly damaging |
Het |
| Ajm1 |
G |
C |
2: 25,469,765 (GRCm39) |
H49D |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,509 (GRCm39) |
C619S |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,375,573 (GRCm39) |
I2082T |
probably benign |
Het |
| Cgrrf1 |
A |
G |
14: 47,090,895 (GRCm39) |
I210M |
probably benign |
Het |
| Clec2e |
A |
T |
6: 129,072,163 (GRCm39) |
V72E |
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,916,131 (GRCm39) |
V587A |
possibly damaging |
Het |
| Col1a2 |
T |
C |
6: 4,539,673 (GRCm39) |
F1314L |
unknown |
Het |
| Ctbp2 |
T |
C |
7: 132,600,670 (GRCm39) |
E618G |
probably damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,104 (GRCm39) |
V29M |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Ezh1 |
A |
T |
11: 101,083,810 (GRCm39) |
D733E |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,934 (GRCm39) |
S202P |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,856,518 (GRCm39) |
Q2102K |
probably benign |
Het |
| Grid2ip |
G |
A |
5: 143,361,340 (GRCm39) |
A191T |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,874,597 (GRCm39) |
S1966G |
probably benign |
Het |
| Ipmk |
A |
G |
10: 71,217,607 (GRCm39) |
K385E |
probably damaging |
Het |
| Itga11 |
G |
A |
9: 62,662,493 (GRCm39) |
V489I |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,784,727 (GRCm39) |
K137R |
probably benign |
Het |
| Meis1 |
G |
A |
11: 18,831,665 (GRCm39) |
Q458* |
probably null |
Het |
| Mst1r |
T |
C |
9: 107,785,523 (GRCm39) |
S394P |
probably benign |
Het |
| Mus81 |
G |
T |
19: 5,536,362 (GRCm39) |
H155Q |
probably benign |
Het |
| Neb |
G |
A |
2: 52,154,134 (GRCm39) |
L2326F |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,286,685 (GRCm39) |
Q162* |
probably null |
Het |
| Nin |
T |
C |
12: 70,090,958 (GRCm39) |
E819G |
possibly damaging |
Het |
| Nox4 |
T |
C |
7: 86,945,074 (GRCm39) |
V79A |
probably benign |
Het |
| Or11g2 |
A |
T |
14: 50,856,170 (GRCm39) |
I164F |
probably damaging |
Het |
| Or13a28 |
T |
A |
7: 140,218,355 (GRCm39) |
I247N |
possibly damaging |
Het |
| Or5ae2 |
T |
A |
7: 84,506,225 (GRCm39) |
I216N |
probably damaging |
Het |
| Or6d12 |
A |
T |
6: 116,493,626 (GRCm39) |
Y296F |
probably damaging |
Het |
| Peg3 |
T |
A |
7: 6,719,141 (GRCm39) |
D69V |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,196,992 (GRCm39) |
E26G |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,087,102 (GRCm39) |
C154S |
probably benign |
Het |
| Ppp1r26 |
C |
T |
2: 28,342,800 (GRCm39) |
T810I |
probably benign |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,257 (GRCm39) |
S349P |
probably benign |
Het |
| Prdm4 |
C |
T |
10: 85,740,129 (GRCm39) |
V424I |
probably benign |
Het |
| Rraga |
A |
G |
4: 86,494,996 (GRCm39) |
I281V |
probably benign |
Het |
| Sall1 |
T |
C |
8: 89,759,510 (GRCm39) |
E198G |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,963,362 (GRCm39) |
D382G |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,095,260 (GRCm39) |
V257A |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,925,568 (GRCm39) |
Y225N |
possibly damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,202 (GRCm39) |
L41P |
probably damaging |
Het |
| Trappc12 |
A |
T |
12: 28,787,751 (GRCm39) |
V444E |
probably benign |
Het |
| Trim34a |
T |
A |
7: 103,897,287 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ttbk1 |
A |
C |
17: 46,787,725 (GRCm39) |
M259R |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,303 (GRCm39) |
V509A |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,581,273 (GRCm39) |
V3718M |
probably benign |
Het |
| Zfp790 |
C |
T |
7: 29,522,525 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vps35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01745:Vps35
|
APN |
8 |
86,000,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02604:Vps35
|
APN |
8 |
86,013,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03278:Vps35
|
APN |
8 |
86,021,590 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03326:Vps35
|
APN |
8 |
86,001,526 (GRCm39) |
nonsense |
probably null |
|
|
PIT4151001:Vps35
|
UTSW |
8 |
86,010,677 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0118:Vps35
|
UTSW |
8 |
86,021,582 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0226:Vps35
|
UTSW |
8 |
86,000,204 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1079:Vps35
|
UTSW |
8 |
86,005,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Vps35
|
UTSW |
8 |
86,005,623 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2082:Vps35
|
UTSW |
8 |
85,990,094 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2156:Vps35
|
UTSW |
8 |
86,013,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2341:Vps35
|
UTSW |
8 |
86,001,443 (GRCm39) |
splice site |
probably benign |
|
|
R3752:Vps35
|
UTSW |
8 |
86,001,460 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4589:Vps35
|
UTSW |
8 |
86,014,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4745:Vps35
|
UTSW |
8 |
85,987,891 (GRCm39) |
missense |
probably benign |
|
|
R4790:Vps35
|
UTSW |
8 |
86,005,486 (GRCm39) |
splice site |
probably null |
|
|
R4827:Vps35
|
UTSW |
8 |
86,000,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4953:Vps35
|
UTSW |
8 |
86,008,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Vps35
|
UTSW |
8 |
85,987,857 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6291:Vps35
|
UTSW |
8 |
86,026,086 (GRCm39) |
start codon destroyed |
probably benign |
0.07 |
|
R6434:Vps35
|
UTSW |
8 |
86,000,124 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7175:Vps35
|
UTSW |
8 |
85,990,189 (GRCm39) |
splice site |
probably null |
|
|
R7206:Vps35
|
UTSW |
8 |
86,014,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Vps35
|
UTSW |
8 |
86,001,596 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7479:Vps35
|
UTSW |
8 |
85,997,434 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7547:Vps35
|
UTSW |
8 |
85,989,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Vps35
|
UTSW |
8 |
86,010,707 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7812:Vps35
|
UTSW |
8 |
86,010,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8312:Vps35
|
UTSW |
8 |
86,001,498 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8356:Vps35
|
UTSW |
8 |
85,987,934 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8403:Vps35
|
UTSW |
8 |
86,001,487 (GRCm39) |
missense |
probably benign |
|
|
R8456:Vps35
|
UTSW |
8 |
85,987,934 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9189:Vps35
|
UTSW |
8 |
86,007,898 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9615:Vps35
|
UTSW |
8 |
86,010,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0020:Vps35
|
UTSW |
8 |
85,990,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGTTGCTTGTGGAAATTGCTACTC -3'
(R):5'- ACTGAGCTAGATCACTAGCCCTGAC -3'
Sequencing Primer
(F):5'- gcctgcctcttaaataaagcc -3'
(R):5'- gctagatcactagcccTGACTAAAAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation